Documenta Ophthalmologica

, Volume 71, Issue 4, pp 355–367 | Cite as

Visual evoked potentials in Prader-Willi syndrome

  • Patricia Apkarian
  • Henk Spekreijse
  • Eveline van Swaay
  • Mary van Schooneveld


Oculocutaneous, electrophysiological, and cytogenetic factors were evaluated in 14 patients with Prader-Willi syndrome and in three controls, two albinos and a normal observer. In a substantial number of PW patients chromosomal anomalies, particularly deletions of the long arm of chromosome 15 as well as hypopigmentation of hair, skin, and eye have been identified. In the genetic condition of albinism, hypopigmentation related to neural ectoderm derivatives is associated with reduced visual acuity, foveal hypoplasia, and aberrant retinogeniculocortical projections. The latter can be observed by visual evoked potential (VEP) assessment of hemispheric response symmetry. To determine the possible neural ectodermal origin of hypopigmentation and its involvement in ocular development and optic pathway integrity, the potential distributions of the pattern onset/offset VEP were examined. Our results show hypopigmentation in 13 of our 14 PW patients and a chromosome abnormality in 6; no correlation between these two features was found. None of the PW patients showed the characteristic contralateral hemispheric asymmetry seen in albinism. On the other hand their VEP profiles were found to be atypical, rendering waveform and cortical topography difficult to interpret. Analysis suggests that in the absence of VEP evidence for optic pathway misprojection, PW hypopigmentation is probably of neural crest origin.

Key words

albino hypopigmentation Prader-Willi optic pathway misrouting visual evoked potentials 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    LaVail, J.H., Nixon, R.A., Sidman, R.L. Genetic control of retinal ganglion cell projections. J. Comp. Neurol. 1978; 182: 399–422.Google Scholar
  2. 2.
    Murakami, D., Sesma, M.A., Rowe, M.H. Characteristics of nasal and temporal retina in Siamese and normally pigmented cats: ganglion cell composition, axon trajectory and laterality of projection. Brain. Behav. Evol. 1982; 21: 67–113.Google Scholar
  3. 3.
    Silver, J., Sapiro, J. Axonal guidance during development of the optic nerve: the role of pigmented epithelia and other extrinsic factors. J. Comp. Neurol. 1981; 202: 521–538.Google Scholar
  4. 4.
    Stone, J., Rowe, M.H., Campion, J.E. Retinal abnormalities in the Siamese cat. J. Comp. Neur. 1978; 180: 773–782.Google Scholar
  5. 5.
    Shatz, C.J., Kliot, M. Prenatal misrouting of the retinogeniculate pathway in Siamese cats. Nature. 1982; 300: 525–529.Google Scholar
  6. 6.
    Gross, K.J., Hickey, T.L. Abnormal laminar patterns in the lateral geniculate nucleus of an albino monkey. Brain Res. 1980; 190: 231–237.Google Scholar
  7. 7.
    Guillery, R.W., Okoro, A.N. and Witkop, C.J. Jr. Abnormal visual pathways in the brain of a human albino. Brain Res. 1975; 96: 373–377.Google Scholar
  8. 8.
    Apkarian, P., Reits, D., Spekreijse, H., Van Dorp, D. A decisive electrophysiological test for human albinism. Electroenceph. Clin. Neurophysiol. 1983; 55: 513–531.Google Scholar
  9. 9.
    Apkarian, P., Spekreijse, H. The VEP and misrouted pathways in human albinism. In Cracco, R.Q., Bodis-Wollner, I, eds. Evoked Potentials. New York: Alan R. Liss. 1986: 211–226.Google Scholar
  10. 10.
    Creel, D.J., Bendel, C.M., Wiesner, G.L., Wirtschafter, J.D., Arthur, D.C., King, R.A. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. New Engl. J. Med. 1986; 314: 1606–1609.Google Scholar
  11. 11.
    Wiesner, G.L., Bendel, C.M., Olds, D.P., White, J.G., Arthur, D.C., Ball, D.W., King, R.A. Hypopigmentation in the Prader-Willi syndrome. Am. J. Hum. Genet. 1987; 40: 431–442.Google Scholar
  12. 12.
    Bray, G.A., Dahms, W.T., Swerdloff, R.S., Fiser, R.H., Atkinson, R.L., Carrel, R.E. The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine. 1983; 62: 59–80.Google Scholar
  13. 13.
    Ledbetter, D.H., Mascarello, J.T., Riccardi, V.M., Harper, V.D., Airhart S.D., Strobel, R.J. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am. J. Hum. Genet. 1982; 34: 278–285.Google Scholar
  14. 14.
    Butler, M.G., Meaney, F.J., Palmer, C.G. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 1986; 23: 793–809.Google Scholar
  15. 15.
    Labidi, F., Cassidy, S.B. A blind prometaphase study of Prader-Willi syndrome: frequency and consistency in interpretation of del 15q. Am. J. Hum. Genet. 1986; 39: 452–460.Google Scholar
  16. 16.
    Hittner, H.M., King, R.A., Riccardi V.M., Ledbetter D.H., Borda R.P., Ferrell R.E., Kretzer F.L. Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am. J. Ophthalmol. 1982; 94: 328–337.Google Scholar
  17. 17.
    Apkarian, P., Van Veenendaal, W., Spekreijse, H. Measurement of visual acuity in infants and young children by visual evoked potentials. Doc. Ophthalmol. Proc. Series. 1986; 45: 168–191.Google Scholar
  18. 18.
    Fonda, G., Thomas, H., Gore, G.V. III Educational and vocational placement and low-vision corrections in albinism. A report based on 253 patients. Sight-Saving Rev. 1971; 41: 29–36.Google Scholar
  19. 19.
    Bogan, S.J., Simon, J.W. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation: Comment Surv. Ophthalmol. 1987; 32: 62–63.Google Scholar

Copyright information

© Kluwer Academic Publishers 1989

Authors and Affiliations

  • Patricia Apkarian
    • 1
  • Henk Spekreijse
    • 1
  • Eveline van Swaay
    • 2
  • Mary van Schooneveld
    • 1
  1. 1.Netherlands Ophthalmic Research InstituteAmsterdamthe Netherlands
  2. 2.Department of Clinical GeneticsErasmus University RotterdamRotterdamthe Netherlands

Personalised recommendations